Canonical Allele Identifier: CA574392597
Gene:

Linked Data

dbSNP Id: rs1315714973
gnomAD v2: 7-46392515-G-T
gnomAD v3: 7-46352917-G-T
gnomAD v4: 7-46352917-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.46352917G>T , CM000669.2:g.46352917G>T GRCh38
NC_000007.13:g.46392515G>T , CM000669.1:g.46392515G>T GRCh37
NC_000007.12:g.46359040G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927241.1:n.3086G>T
XR_927242.1:n.2994G>T
XR_927241.2:n.3086G>T
XR_927242.2:n.3051G>T